NM_001369.3:c.10715_10717delCTA
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 1P and 0B. PM4_Supporting
The NM_001369.3(DNAH5):c.10715_10717delCTA(p.Thr3572del) variant causes a disruptive inframe deletion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,942 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_001369.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
Publications
- primary ciliary dyskinesia 3Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), G2P, ClinGen
- primary ciliary dyskinesiaInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH5 | ENST00000265104.5 | c.10715_10717delCTA | p.Thr3572del | disruptive_inframe_deletion | Exon 63 of 79 | 1 | NM_001369.3 | ENSP00000265104.4 | ||
DNAH5 | ENST00000681290.1 | c.10670_10672delCTA | p.Thr3557del | disruptive_inframe_deletion | Exon 63 of 79 | ENSP00000505288.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000239 AC: 6AN: 251168 AF XY: 0.0000221 show subpopulations
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461780Hom.: 0 AF XY: 0.0000358 AC XY: 26AN XY: 727188 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74334 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
Primary ciliary dyskinesia Uncertain:3
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This variant, c.10715_10717del, results in the deletion of 1 amino acid(s) of the DNAH5 protein (p.Thr3572del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773869600, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with DNAH5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
The c.10715_10717delCTA variant (also known as p.T3572del) is located in coding exon 63 of the DNAH5 gene. This variant results from an in-frame CTA deletion at nucleotide positions 10715 to 10717. This results in the in-frame deletion of a threonine at codon 3572. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Primary ciliary dyskinesia 3 Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at